Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028515_135028524delinsTTTTTTCGCG , CM000667.2:g.135028515_135028524delinsTTTTTTCGCG | GRCh38 |
| NC_000005.9:g.134364205_134364214delinsTTTTTTCGCG , CM000667.1:g.134364205_134364214delinsTTTTTTCGCG | GRCh37 |
| NC_000005.8:g.134392104_134392113delinsTTTTTTCGCG | NCBI36 |
| NG_012114.1:g.10751_10760delinsCGCGAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*255_*264delinsCGCGAAAAAA MANE Select | ENSP00000265340.6:n.*255_*264delinsCGCGAAAAAA | |
| ENST00000265340.11:c.*255_*264delinsCGCGAAAAAA | ENSP00000265340.6:n.*255_*264delinsCGCGAAAAAA | |
| NM_002653.4:c.*255_*264delinsCGCGAAAAAA | NP_002644.4:n.*255_*264delinsCGCGAAAAAA | |
| NM_002653.5:c.*255_*264delinsCGCGAAAAAA MANE Select | NP_002644.4:n.*255_*264delinsCGCGAAAAAA |